Varaico: Literature-Extracted Genetic Variants

Gene:WWC2
Variant:p.D963A

WWC2

69 papers

RefSeq Summary

This gene encodes a member of the WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs,...

Pfam Domains

WWaa 12–41UCSCWW domain
WWaa 59–88UCSCWW domain
WWC1aa 300–434UCSCWWC1-like, helical hairpin

Gene Aliases

HGNC Name

WW and C2 domain containing 2

HGNC Alias Symbols

BOMB; FLJ22029

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024949.6
p.D963A
c.2888A>C
Surrounding Variants
3 papers
NM_024949.6
p.H991N
c.2971C>A
1 paper
NM_024949.6
p.N940S
c.2819A>G
1 paper
NM_024949.6
p.S921N
c.2762G>A
2 papers
NM_024949.6
p.D904H
c.2710G>C
1 paper
NM_024949.6
p.R900fs
c.2698_2699fs
1 paper
NM_024949.6
p.R900delFs
c.2698_2699delAG
1 paper
NM_024949.6
p.T897R
c.2690C>G
3 papers
NM_024949.6
p.E1039K
c.3115G>A
1 paper
NM_024949.6
p.R1041C
c.3121C>T
2 papers
NM_024949.6
p.Q877_E878del1
c.2630_2632delAAG
1 paper
NM_024949.6
p.A876V
c.2627C>T
2 papers
NM_024949.6
p.Q877_E878del2
c.2629_2633del6
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."